Summary for the 517-th Site(A)

PID QueryLength FocusSite TITLE
27906 918 517 A RecName: Full=Interleukin-6 receptor subunit beta ; Short=IL-6 receptor subunit beta; Short=IL-6R subunit beta; Short=IL-6R-beta; Short=IL-6RB;AltName: Full=CDw130;AltName: Full=Interleukin-6 signal transducer;AltName: Full=Membrane glycoprotein 130; Short=gp130 ;AltName: Full=Oncostatin-M receptor subunit alpha;AltName: CD_antigen=CD130;Flags: Precursor;
UniProt Information
AC/IDAC:P40189 ID:IL6RB_HUMAN
Feature Table for 517-th site VARIANT: /note="A -> P (in HIES4B; results in impaired cytokine- mediated signaling pathway with loss of response to IL-6, IL-11, IL-27 and reduced response to OSM, CNTF and LIF)" /id="VAR_086952"
DOMAIN: /note="Fibronectin type-III 4"
VAR_SEQ: /note="Missing (in isoform 2)" /id="VSP_001685"
TOPO_DOM: /note="Extracellular"
VARIANT: /note="Missing (in STWS2; results in impaired cytokine- mediated signaling pathway with loss of response to IL-6, IL-11, IL-27, OSM and LIF; does not localize to the cell membrane)" /id="VAR_086951"
CHAIN: /note="Interleukin-6 receptor subunit beta" /id="PRO_0000010899"
VARIANT for 517-th site A->P LP/P " Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) " [MIM:618523]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment]
A:32% S:15% L:13% T:11% G:10% K:6% D:4% R:2% H:2% M:2% P:2% 
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
8d82 (coil) e (exposed) 25.9


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